DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Orbital separation excessive ×

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1553200431	COL11A1	0.851	0.240	1	102912180	inframe deletion	CCTCACCAGATGGGCCAG/-	delins			8
rs1057524237	COL11A1	0.851	0.280	1	102915626	splice region variant	C/T	snv			7
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs369634007	TMEM87B	0.882	0.080	2	112098688	missense variant	A/G	snv	1.6E-05	2.1E-05	10
rs397507509	PTPN11	0.807	0.240	12	112450359	missense variant	G/C;T	snv			5
rs121918459	PTPN11	0.662	0.440	12	112450368	missense variant	A/G	snv	1.2E-05	7.0E-06	46
rs121918466	PTPN11	0.752	0.280	12	112450416	missense variant	A/G	snv			12
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs121918456	PTPN11	0.752	0.280	12	112473023	missense variant	A/C;G	snv			11
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	14
rs121918455	PTPN11	0.695	0.440	12	112477720	missense variant	A/C;G	snv			31
rs121918467	PTPN11	0.807	0.280	12	112486482	missense variant	C/A;T	snv	8.0E-06; 1.2E-05		23
rs397507539	PTPN11	0.851	0.160	12	112489047	missense variant	C/A;G;T	snv	4.0E-06		8
rs397507540	PTPN11	0.851	0.160	12	112489048	missense variant	C/A;T	snv			8
rs397507547	PTPN11	0.752	0.280	12	112489086	missense variant	A/G	snv	4.0E-06		14
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			6
rs121918470	PTPN11	0.790	0.160	12	112489105	missense variant	A/C;G	snv	4.0E-06		10
rs1555038111	KMT2A	0.701	0.480	11	118478153	stop gained	T/G	snv			37
rs121918494	FGFR2	0.790	0.160	10	121517363	missense variant	G/C	snv			24
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			24
rs1564919048	FGFR2	0.732	0.280	10	121520106	missense variant	C/A	snv			23
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35
rs121913378	BRAF	0.776	0.280	7	140753337	missense variant	C/A;G;T	snv			6
rs121913375	BRAF	0.851	0.240	7	140753339	missense variant	G/A;C	snv			5